Detalhe da pesquisa
1.
Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia.
Eur Respir J
; 58(4)2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33795320
2.
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
J Med Genet
; 50(5): 309-23, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23456818
3.
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Eur J Hum Genet
; 29(9): 1405-1417, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33603160